{"id":"W2075067213","doi":"10.1007/s00439-002-0770-y","title":"Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews","year":2002,"lang":"en","type":"article","venue":"Human Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Macrocephaly; Biology; Founder effect; Population; Judaism; Ataxia; Leukoencephalopathy; Genetics; Mutation; Disease; Gene; Internal medicine; Neuroscience; Medicine; Allele; Haplotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007155353,0.0002389091,0.0001903417,0.00007081054,0.00009852195,0.00006160016,0.000124242,0.0001398146,0.0001108385],"category_scores_gemma":[0.00002149478,0.0002030488,0.00005443598,0.0001232272,0.0002294435,0.000008839589,0.0000707323,0.00008373305,0.000006771736],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002236482,"about_ca_system_score_gemma":0.00001740338,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002142506,"about_ca_topic_score_gemma":0.0001776656,"domain_scores_codex":[0.9986489,0.0001549264,0.0002416585,0.0004571166,0.000182476,0.0003149436],"domain_scores_gemma":[0.9992974,0.00001114423,0.00007567622,0.0003275774,0.00006551589,0.0002226426],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009114506,0.0001353738,0.9794291,0.00002377916,0.00002638288,0.00001956362,0.000170801,0.00003219211,0.01905075,0.00003845764,0.000450629,0.0005317818],"study_design_scores_gemma":[0.002338815,0.000758105,0.9923683,0.00002076522,0.00003557934,0.000002495059,0.00002889535,0.0002349652,0.00329199,0.00004223826,0.0005790884,0.0002987738],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978149,0.0008652699,0.00003849759,0.00002313259,0.0000588877,0.0003408079,0.0000096319,0.00001878137,0.0008301176],"genre_scores_gemma":[0.9986206,0.00007106573,0.00006412729,0.0001967247,0.00009104384,0.00005457864,0.00006436189,0.00003682409,0.0008006741],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01575875,"threshold_uncertainty_score":0.8280088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01067650280653791,"score_gpt":0.2275676420115756,"score_spread":0.2168911392050377,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}